Amish, Mennonite, and Hutterite
Genetic Disorder Database

GM1-gangliosidosis, type I

Disorder
OMIM #: #230500  (Click to access OMIM database)
Disorder: GM1-gangliosidosis, type I 
Also known as: GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I GANGLIOSIDOSIS, GENERALIZED GM1, INFANTILE FORM GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1 BETA-GALACTOSIDASE-1 DEFICIENCY GLB1 DEFICIENCY  
Clinical
Phenotype: rapid psychomotor deterioration, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:

Testing is available at LHSC.

 

Mutations
1   Amish  
Gene: GLB1
Base Change: C>T, at nucleotide 902
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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